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Mitochondrial disease v0.923 | PAM16 |
Bryony Thompson gene: PAM16 was added gene: PAM16 was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081 Phenotypes for gene: PAM16 were set to autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223; Disorders of mitochondrial protein import |